HPN Chromosome 19

Hepsin
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
"Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases"
Locus Type
gene with protein product
Location
19q13.11
Ensembl
ENSG00000105707
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS149970077 Health Risk Conflicting classifications of pathogenicity
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